- Renata Siciliani Scalco,
- Jasper M Morrow,
- Suzanne Booth,
- Sherryl Chatfield,
- Richard Godfrey,
- Ros Quinlivan
Neuromuscul Disord 2017 Sep 3;27(9):852-855. Epub 2017 May 3.
MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.
Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. Read More